2. NHS Sickle Cell & Thalassaemia Screening Programme
Marie Coughlin Screening Lead
March 29th 2010

3. Today’s Session
Second of 6 Antenatal & Newborn sessions throughout 2010

4. Reasons for Today’s Session
As a result of ChaMPs commissioned review of screening
A need to further engage public health in Antenatal & Newborn Screening Programmes
At the request of public health screening leads
Part of C&M Screening Action Plan
Thought it useful to invite commissioners also

5. Aim of the Session
To increase knowledge base within public health and commissioning

6. Session Format Overview of UK NSC/NWSHA structure
Overview of Sickle Cell & Thalassaemia Screening
Review of patient pathway
Data, performance and QA
Future developments
Questions/comments

7. Overarching Structure
UK NSC oversees 6 Antenatal & Newborn Screening Programmes
UK NSC has defined accountability & governance structure for SHA, PCT and provider
SHA coordinators with regional and national role
NWSHA coordinators now recruited; 1 x 8a, 1 x 8b – May/June start

8. Sickle Cell & Thalassaemia Screening
Programme was set up in England in 2001 following Government commitment in the NHS Plan (2000)
Is world’s first linked Antenatal and Newborn screening programme
Groundbreaking screening programme, not only reveals a condition but also identifys and systematically communicates carrier status
Screening available at 3 stages:
Men and women can ask for screening before they conceive
Parents offered screening during pregnancy
Babies screened shortly after birth (integrated with newborn bloodspot)

9. Programme Aims
To offer informed choice and to support people with decision-making in line with their beliefs and values
To offer timely screening to women (and couples) before 10 weeks of pregnancy
To identify 50% couples/women ‘at high risk’ by end of 12th week of pregnancy
To achieve the lowest possible childhood mortality and morbidity rates for sickle cell & thalassaemia disorders

10. Sickle Cell & Thalassaemia Explained
Sickle cell & thalassaemia are among England’s most commonly inherited genetic blood disorders.  Sickle cell affects approx 12,500 people with an estimated 240,000 carriers
Around 700 people are affected by major thalassaemia with an estimated 214,000 carriers.

11. Patient Pathway….

12. Sickle Cell & Thalassaemia
Rebecca Till
Screening Midwife
Macclesfield District General Hospital
29th March 2010

13. Aim of Programme
Identify carrier status
Referral
Choices

14. Haemoglobinopathies
Inherited blood conditions
Affects haemoglobin

15. Inheritance Pattern Not a carrier Not a carrier Carrier Carrier
Partner IS a carrier
Partner who is NOT a carrier
Not a carrier
Not a carrier
Carrier
Carrier

16. Both Parents Carriers
Carrier Carrier
Affected Child
Not a carrier

17. Carrier Status and Risk to Fetus
Carrier of mother and father
Hb S
β-thal
Αβ-thal
Hb Lepore
Hb E
Hb O Arab
Hb C
Hb D Punjab
HPFP
Not a carrier
HPFH
Key: Serious Risk - Refer for counselling and offer prenatal diagnosis
 Less Serious Risk - Refer for counselling, further investigation maybe required
No Risk - No further action Table based on work of B Modell

18. Sickle Cell Affects haemoglobin Oxygen carrying capacity
Normal Hb = HbA
Sickle Hb = HbS

19. Symptoms of Sickle Haemoglobin
Impairs oxygen passage through vessels
Hypoxia/crisis
Anaemia
Infections
Organ damage

20. Treatment
Pain relief
Prevent infections, organ damage and strokes
Hydorxeurea
Bone Marrow Transplant

21. Thalassaemia
Affects haemoglobin production
Life threatening
Life long treatment
Carrier
Thalassaemia major (severe)

22. Effects Fatigue Poor appetite Slow growth Jaundice
Enlarged spleen/liver/heart
Deformed/weak bones

23. Treatment
Blood transfusions
Chelation
Cure

24. Screening
Universal
High prevalence (> 1.5/10000)
Low prevalence (< 1.5/10000)

25. Screening Process

26. Pathway
Screen 8-10 weeks
Results
Action

27. Normal Result
Continue with pregnancy
Newborn bloodspot

28. Inconclusive Result
Inform woman
Assess risk
Consider partner testing

29. Carrier Result
Inform woman
Confirmation of carrier status
Offer partner screening

30. Affected
High risk pregnancy
Offer partner screening

31. Partner Screening Results
Normal
Continue
Newborn bloodspot

32. Partner Carrier
Inform couple
Confirmation of carrier status
Confirmation of risk
Refer as ‘At Risk’
Offer diagnostic testing

33. Return to Antenatal Care Pathway as high or low risk

34. References

35. Data & Performance
Trusts required to produce annual report – difficult to obtain copies
NSC produce annual report
2008/2009 annual report in brief:
Due to crossed boundaries, robust patient pathways are crucial
Only 320 couples chose prenatal screening
Challenges engaging primary care in prenatal screening
Around 57% of fathers tested, unclear why number is low
Inadequate IT infrastructure
350 babies born with sickle cell and over 9000 newborn carriers

36. Findings by SHA

37. Quality Assurance QA in place for labs
Developing QA for the rest of the service
NWSHA coordinators will focus on QA

38. Future Developments
National office currently going through procurement process for training centres for labs
Status Codes Project underway to improve the link between parents and babies on current IT systems
NW policy being developed on how to improve the inclusion of transfused babies
IT failsafe system being piloted - receipt of sample by lab
Screening master class to include tips on commissioning high quality services – 1 July 2010 in London

39. Questions/Comments
With regard to QA, how do we assure our Boards that local programmes run satisfactorily?

40. Thank You